Increasing the reference populations for the 55 AISNP panel: the need and benefits.
Increasing the reference populations for the 55 AISNP panel: the need and benefits.
复制标题
增加 55 个 AISNP 小组的参考人群：需求和好处
DOI：
10.1007/s00414-016-1524-z
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发表时间：
2017-07
影响因子：
2.1
通讯作者：
Kidd KK
中科院分区：
文献类型：
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作者：
Pakstis AJ;Kang L;Liu L;Zhang Z;Jin T;Grigorenko EL;Wendt FR;Budowle B;Hadi S;Al Qahtani MS;Morling N;Mogensen HS;Themudo GE;Soundararajan U;Rajeevan H;Kidd JR;Kidd KK
对个体的祖先推断只能与使用的SNPs等位基因频率数据的参考群体一样好。如果最相关的祖先群体(S)没有所研究的SNPs的数据，那么基于DNA证据的分析可能表明一个非常遥远的亲缘关系群体，尽管它是现有参考群体中关系较密切的一个。在之前为Kidd Lab 55 AISNP小组发表的125个群体样本中，我们增加了另外14个群体样本(研究了>；1100个个体)的参考群体等位基因频率。Alfred和Frog-kb的全部55个SNPs的等位基因频率现在已经公开，总共有139个种群样本。这个由55个祖先信息的SNPs组成的Kidd实验室小组已经被ThermoFisher Science和Illumina整合到商业试剂盒中，用于大规模并行测序。使用这些试剂盒的研究人员将发现增强的参考种群集很有用。本文的在线版本(doi：10.1007/s00414-0161524-z)包含补充材料，授权用户可以使用。
Ancestry inference for an individual can only be as good as the reference populations with allele frequency data on the SNPs being used. If the most relevant ancestral population(s) does not have data available for the SNPs studied, then analyses based on DNA evidence may indicate a quite distantly related population, albeit one among the more closely related of the existing reference populations. We have added reference population allele frequencies for 14 additional population samples (with >1100 individuals studied) to the 125 population samples previously published for the Kidd Lab 55 AISNP panel. Allele frequencies are now publicly available for all 55 SNPs in ALFRED and FROG-kb for a total of 139 population samples. This Kidd Lab panel of 55 ancestry informative SNPs has been incorporated in commercial kits by both ThermoFisher Scientific and Illumina for massively parallel sequencing. Researchers employing those kits will find the enhanced set of reference populations useful. The online version of this article (doi:10.1007/s00414-016-1524-z) contains supplementary material, which is available to authorized users.